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rs727504747

From SNPedia

Orientationminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs727504747(CT;CT)
Make rs727504747(CT;GC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position533880
GeneHRAS, LRRC56
is asnp
is mentioned by
dbSNPrs727504747
ebirs727504747
HLIrs727504747
Exacrs727504747
Varsomers727504747
Maprs727504747
PheGenIrs727504747
hapmaprs727504747
1000 genomesrs727504747
hgdprs727504747
ensemblrs727504747
gopubmedrs727504747
geneviewrs727504747
scholarrs727504747
googlers727504747
pharmgkbrs727504747
gwascentralrs727504747
openSNPrs727504747
23andMers727504747
23andMe allrs727504747
SNP Nexus

SNPshotrs727504747
SNPdbers727504747
MSV3drs727504747
GWAS Ctlgrs727504747
Max Magnitude0
ClinVar
Risk rs727504747(CT;CT)
Alt rs727504747(CT;CT)
Reference rs727504747(GC;GC)
Significance Probable-Pathogenic
Disease Costello syndrome
Variation info
Gene HRAS
CLNDBN Costello syndrome
Reversed 1
HGVS NC_000011.9:g.533880_533881delinsAG
CLNSRC
CLNACC RCV000156047.1,